Homozygosity for a factor XII mutation in one female and one male patient with hereditary angio-oedema

Grumach, A. S. and Stieber, C. and Veronez, C. L. and Cagini, N. and Constantino-Silva, R. N. and Cordeiro, E. and Nothen, M. M. and Pesquero, J. B. and Cichon, S.. (2016) Homozygosity for a factor XII mutation in one female and one male patient with hereditary angio-oedema. Allergy, 71 (1). pp. 119-123.

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Hereditary angio-oedema (HAE) with normal C1 inhibitor is associated with heterozygous mutations in the factor XII gene (FXII-HAE). We report two Brazilian FXII-HAE families segregating the mutation c.983 C<A (p.Thr328Lys). In each family, one patient with a homozygous mutation was found. The homozygous female patient in family 1 displayed a severe phenotype. However, this falls within the clinical phenotype spectrum reported for heterozygous female mutation carriers. The homozygous male patient in family 2 also showed a severe phenotype. This finding is intriguing, as to our knowledge, it is the first such report for a male FXII-HAE mutation carrier. In the rare instances in which male mutation carriers are affected, a mild phenotype is typical. The present findings therefore suggest that homozygous FXII-HAE mutation status leads to a severe phenotype in females and males, and to an increased risk of manifest symptoms in the latter.
Faculties and Departments:03 Faculty of Medicine > Departement Biomedizin > Department of Biomedicine, University Hospital Basel > Human Genetics (Cichon)
UniBasel Contributors:Cichon, Sven
Item Type:Article, refereed
Article Subtype:Further Journal Contribution
ISSN:1398-9995 (Electronic) 0105-4538 (Linking)
Note:Publication type according to Uni Basel Research Database: Journal item
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Last Modified:09 Apr 2019 16:17
Deposited On:09 Apr 2019 16:17

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